Deficiency of α-dystroglycan in muscle-eye-brain disease

Biochemical and Biophysical Research Communications

Volumn 291, Issue 5, 2002, Pages 1283-1286

  Kano, Hiroki ^a   Kobayashi, Kazuhiro ^a   Tachikawa, Masaji ^a   Toda, Tatsushi ^a   Yoshikawa, Hideki ^a   Herrmann, Ralf ^b   Straub, Volker ^b   Voit, Thomas ^b   Manya, Hiroshi ^c   Endo, Tamao ^c   Nishino, Ichizo ^d   Nonaka, Ikuya ^e   Talim, Beril ^f   Topaloglu, Haluk ^f  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Dystroglycan; Glycosylation; Muscle eye brain disease; Muscular dystrophy; Neuronal migration disorder; POMGnT1

Indexed keywords

ALPHA DYSTROGLYCAN; GLYCAN DERIVATIVE; PROTEIN; PROTEIN O LINKED MANNOSE BETA1,2 N ACETYLGLUCOSAMINYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME GLYCOSYLATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MUSCLE EYE BRAIN DISEASE; MUTATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

MAMMALIA;

EID: 0036291325     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.2002.6608     Document Type: Article

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